OFC6
MCID: ORF025
MIFTS: 24

Orofacial Cleft 6 (OFC6)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 6

MalaCards integrated aliases for Orofacial Cleft 6:

Name: Orofacial Cleft 6 56 12 73 13
Orofacial Cleft 6, Susceptibility to 56 29 6
Ofc6 56 73
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 6 56
Non-Syndromic Cleft Lip with or Without Cleft Palate 6 73
Non-Syndromic Cleft Lip/palate 6 73
Non-Syndromic Orofacial Cleft 6 73
Orofacial Cleft, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see ofc1, )
allelic disorder to van der woude syndrome (vws, ) and popliteal pterygium syndrome (pps, )



Classifications:



External Ids:

Disease Ontology 12 DOID:0080593
OMIM 56 608864
OMIM Phenotypic Series 56 PS119530
MeSH 43 D002971
MedGen 41 C1837213

Summaries for Orofacial Cleft 6

UniProtKB/Swiss-Prot : 73 Non-syndromic orofacial cleft 6: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 6, is also known as orofacial cleft 6, susceptibility to. An important gene associated with Orofacial Cleft 6 is IRF6 (Interferon Regulatory Factor 6). Related phenotypes are cleft palate and cleft upper lip

Disease Ontology : 12 An orofacial cleft that has material basis in variation in an enhancer of the IRF6 gene on chromosome 1q32.

OMIM : 56 Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate (Rahimov et al., 2008; Pan et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530. (608864)

Related Diseases for Orofacial Cleft 6

Symptoms & Phenotypes for Orofacial Cleft 6

Human phenotypes related to Orofacial Cleft 6:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate, isolated
cleft lip, isolated
cleft lip and cleft palate

Clinical features from OMIM:

608864

Drugs & Therapeutics for Orofacial Cleft 6

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 6

Genetic Tests for Orofacial Cleft 6

Genetic tests related to Orofacial Cleft 6:

# Genetic test Affiliating Genes
1 Orofacial Cleft 6, Susceptibility to 29 IRF6

Anatomical Context for Orofacial Cleft 6

Publications for Orofacial Cleft 6

Articles related to Orofacial Cleft 6:

# Title Authors PMID Year
1
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. 56
20799332 2010
2
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 56
18836445 2008
3
Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. 56
17702008 2007
4
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. 56
16096995 2005
5
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. 56
15558496 2005
6
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. 56
15317890 2004
7
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). 56
11746036 2001
8
Van der Woude syndrome and nonsyndromic cleft lip and palate. 56
1642245 1992
9
Family history and socioeconomic risk factors for non-syndromic cleft lip and palate: a matched case-control study in a less developed country. 61
22674314 2011

Variations for Orofacial Cleft 6

ClinVar genetic disease variations for Orofacial Cleft 6:

6 (show top 50) (show all 108) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)SNV Pathogenic 458682 rs1553247595 1:209961935-209961935 1:209788590-209788590
2 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln)SNV Pathogenic 458684 rs1553247774 1:209964151-209964151 1:209790806-209790806
3 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter)SNV Pathogenic 844327 1:209963911-209963911 1:209790566-209790566
4 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)SNV Pathogenic 843190 1:209969892-209969892 1:209796547-209796547
5 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter)SNV Pathogenic 851809 1:209969893-209969893 1:209796548-209796548
6 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs)deletion Pathogenic 659301 1:209974626-209974626 1:209801281-209801281
7 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp)SNV Pathogenic 3419 rs28942095 1:209961971-209961971 1:209788626-209788626
8 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter)SNV Pathogenic 40077 rs397515434 1:209974614-209974614 1:209801269-209801269
9 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)SNV Pathogenic 3414 rs121434226 1:209969822-209969822 1:209796477-209796477
10 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His)SNV Pathogenic 3415 rs121434227 1:209969821-209969821 1:209796476-209796476
11 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser)SNV Pathogenic 265196 rs886039388 1:209969846-209969846 1:209796501-209796501
12 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)SNV Pathogenic/Likely pathogenic 3417 rs28942094 1:209974743-209974743 1:209801398-209801398
13 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)SNV Pathogenic/Likely pathogenic 449039 rs1553248641 1:209974734-209974734 1:209801389-209801389
14 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)deletion Likely pathogenic 583293 rs1558038218 1:209961845-209961855 1:209788500-209788510
15 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)SNV Likely pathogenic 643611 1:209963950-209963950 1:209790605-209790605
16 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His)SNV Likely pathogenic 650115 1:209969780-209969780 1:209796435-209796435
17 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val)SNV Likely pathogenic 663350 1:209969896-209969896 1:209796551-209796551
18 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)SNV Conflicting interpretations of pathogenicity 217873 rs769068305 1:209961959-209961959 1:209788614-209788614
19 IRF6 NM_006147.4(IRF6):c.*1473C>GSNV Conflicting interpretations of pathogenicity 295183 rs531092939 1:209960292-209960292 1:209786947-209786947
20 IRF6 NM_006147.4(IRF6):c.*2122T>CSNV Conflicting interpretations of pathogenicity 295176 rs567043500 1:209959643-209959643 1:209786298-209786298
21 IRF6 NM_006147.4(IRF6):c.*575T>ASNV Uncertain significance 295196 rs561885624 1:209961190-209961190 1:209787845-209787845
22 IRF6 NM_006147.4(IRF6):c.*2064G>ASNV Uncertain significance 295177 rs886045876 1:209959701-209959701 1:209786356-209786356
23 IRF6 NM_006147.4(IRF6):c.*1844G>ASNV Uncertain significance 295179 rs886045877 1:209959921-209959921 1:209786576-209786576
24 IRF6 NM_006147.4(IRF6):c.*1767G>ASNV Uncertain significance 295180 rs886045878 1:209959998-209959998 1:209786653-209786653
25 IRF6 NM_006147.4(IRF6):c.*2344C>TSNV Uncertain significance 295173 rs866747914 1:209959421-209959421 1:209786076-209786076
26 IRF6 NM_006147.4(IRF6):c.*1123T>CSNV Uncertain significance 295187 rs886045879 1:209960642-209960642 1:209787297-209787297
27 IRF6 NM_006147.4(IRF6):c.1007T>G (p.Leu336Arg)SNV Uncertain significance 295207 rs761816133 1:209963893-209963893 1:209790548-209790548
28 IRF6 NM_006147.4(IRF6):c.598A>G (p.Met200Val)SNV Uncertain significance 295209 rs886045884 1:209965683-209965683 1:209792338-209792338
29 IRF6 NM_006147.4(IRF6):c.-98T>CSNV Uncertain significance 295216 rs886045886 1:209979314-209979314 1:209805969-209805969
30 IRF6 NM_006147.4(IRF6):c.*2795G>ASNV Uncertain significance 295168 rs760763242 1:209958970-209958970 1:209785625-209785625
31 IRF6 NM_006147.4(IRF6):c.*591T>GSNV Uncertain significance 295195 rs576516344 1:209961174-209961174 1:209787829-209787829
32 IRF6 NM_006147.4(IRF6):c.*2268C>TSNV Uncertain significance 295174 rs752399888 1:209959497-209959497 1:209786152-209786152
33 IRF6 NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)SNV Uncertain significance 295206 rs886045883 1:209961781-209961781 1:209788436-209788436
34 IRF6 NM_006147.4(IRF6):c.-3-11G>CSNV Uncertain significance 295212 rs886045885 1:209974772-209974772 1:209801427-209801427
35 IRF6 NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr)SNV Uncertain significance 849913 1:209963070-209963070 1:209789725-209789725
36 IRF6 NM_006147.4(IRF6):c.174G>A (p.Lys58=)SNV Uncertain significance 857662 1:209974585-209974585 1:209801240-209801240
37 IRF6 NM_006147.4(IRF6):c.35C>A (p.Pro12His)SNV Uncertain significance 857849 1:209974724-209974724 1:209801379-209801379
38 IRF6 NM_006147.4(IRF6):c.*2658A>CSNV Uncertain significance 876215 1:209959107-209959107 1:209785762-209785762
39 IRF6 NM_006147.4(IRF6):c.*2006T>CSNV Uncertain significance 875301 1:209959759-209959759 1:209786414-209786414
40 IRF6 NM_006147.4(IRF6):c.*2002A>GSNV Uncertain significance 875302 1:209959763-209959763 1:209786418-209786418
41 IRF6 NM_006147.4(IRF6):c.*1999T>CSNV Uncertain significance 875303 1:209959766-209959766 1:209786421-209786421
42 IRF6 NM_006147.4(IRF6):c.*1870G>CSNV Uncertain significance 876260 1:209959895-209959895 1:209786550-209786550
43 IRF6 NM_006147.4(IRF6):c.665C>T (p.Pro222Leu)SNV Uncertain significance 644879 1:209965616-209965616 1:209792271-209792271
44 IRF6 NM_006147.4(IRF6):c.82T>G (p.Trp28Gly)SNV Uncertain significance 464464 rs1553248637 1:209974677-209974677 1:209801332-209801332
45 IRF6 NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser)SNV Uncertain significance 464462 rs1553247592 1:209961901-209961901 1:209788556-209788556
46 IRF6 NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn)SNV Uncertain significance 464465 rs1553247754 1:209963936-209963936 1:209790591-209790591
47 IRF6 NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg)SNV Uncertain significance 464461 rs1553247744 1:209963845-209963845 1:209790500-209790500
48 IRF6 NM_006147.4(IRF6):c.242C>A (p.Ala81Asp)SNV Uncertain significance 464463 rs1553248270 1:209969830-209969830 1:209796485-209796485
49 IRF6 NM_006147.4(IRF6):c.889G>A (p.Val297Ile)SNV Uncertain significance 533111 rs779827384 1:209964011-209964011 1:209790666-209790666
50 IRF6 NM_006147.4(IRF6):c.264T>A (p.Asn88Lys)SNV Uncertain significance 533113 rs1553248265 1:209969808-209969808 1:209796463-209796463

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 6:

73
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Phe369Ser VAR_014988 rs118541231

Expression for Orofacial Cleft 6

Search GEO for disease gene expression data for Orofacial Cleft 6.

Pathways for Orofacial Cleft 6

GO Terms for Orofacial Cleft 6

Sources for Orofacial Cleft 6

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68 SNOMED-CT via HPO
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